Format

Send to

Choose Destination
BJPsych Bull. 2017 Apr;41(2):109-114. doi: 10.1192/pb.bp.116.054072.

Niemann-Pick type C disease - the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment.

Author information

1
Niemann-Pick UK, Washington, UK.
2
The Mark Holland Metabolic Unit, Salford Royal Foundation NHS Trust, Manchester, UK.

Abstract

Niemann-Pick type C (NP-C) disease is a rare neurodegenerative lysosomal storage disorder. It is highly heterogeneous, and there is limited awareness of a substantial subgroup that has an attenuated adolescent/adult-onset disease. In these patients psychiatric features, often a psychosis, may dominate the initial impression, although often there is an associated ataxia and cognitive impairment. Typically, patients experience a substantial diagnostic delay. In this review we highlight the importance of early recognition and discuss the pathophysiology, neuropsychiatric presentation and recent changes in the investigation and work-up of these patients, and treatment options.

Conflict of interest statement

Declaration of interest W.R.H.E. is a trustee of NP-UK and C.J.H. is Director of FYMCA Medical and consultant for Amicus, Alexion, Actelion, BioMarin, Sanofi Genzyme and Shire.

Publication type

Publication type

Supplemental Content

Full text links

Icon for Cambridge University Press Icon for PubMed Central
Loading ...
Support Center